Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893902
NKX2-5
0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 2
rs104893905
NKX2-5
0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 2
rs769531968
JAG1
0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 2
rs10080
NRP1
1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50 1
rs1057515420
EPHB4
1.000 0.080 7 100819874 missense variant G/A snv 1
rs1857231 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 1
rs233722
RPH3A
1.000 0.080 12 112593670 intron variant G/A snv 0.53 1
rs56085230
ROCK1
1.000 0.080 18 21042578 synonymous variant G/A snv 6.7E-03 6.3E-03 1
rs1554034812
NIPBL
0.925 0.240 5 37058938 frameshift variant G/- delins 3
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs387906769
GATA4
0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 7
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv 6
rs17153694
GATA4
0.851 0.160 8 11730972 intron variant C/T snv 0.12 4
rs121918351
JAG1
0.882 0.240 20 10658611 missense variant C/T snv 3
rs2228638
NRP1
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 3
rs387906818
GATA6
0.882 0.120 18 22181516 missense variant C/T snv 3
rs233716
RPH3A
1.000 0.080 12 112602139 intron variant C/T snv 0.58 1
rs771792843
GATA4
1.000 0.080 8 11749060 missense variant C/T snv 4.0E-06 1
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs774966208
NOTCH1
1.000 0.080 9 136523014 missense variant C/G;T snv 1
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs104893904
NKX2-5
0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 6
rs387906814
GATA6
1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04 1